Atypical Manifestation of LRBA Deficiency with Predominant IBD-like Phenotype

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

(2014) Holm H. Uhlig et al.   GASTROENTEROLOGY

Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease

(2014) Yaron Avitzur et al.   GASTROENTEROLOGY

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C  

(2013) E. Salzer et al.   BLOOD

The gut as a sensory organ

(2013) John B. Furness et al.   Nature Reviews Gastroenterology & Hepatology

The BEACH Is Hot: A LYST of Emerging Roles for BEACH-Domain Containing Proteins in Human Disease

(2013) Andrew R. Cullinane et al.   TRAFFIC

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

(2012) Gabriela Lopez-Herrera et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Age of Gene Discovery in Very Early Onset Inflammatory Bowel Disease

(2012) Aleixo M. Muise et al.   GASTROENTEROLOGY

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

(2012) Katja Christodoulou et al.   GUT

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

(2012) Siobhan O. Burns et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Characteristics of inflammatory bowel disease with an onset before eight years of age: A multicenter epidemiological survey in Japan

(2012) Shun-ichi Maisawa et al.   JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

(2011) S. Gulsuner et al.   GENOME RESEARCH

Genetics and pathogenesis of inflammatory bowel disease

(2011) Bernard Khor et al.   NATURE

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

(2011) Walter HA Kahr et al.   NATURE GENETICS

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

(2011) Cornelis A Albers et al.   NATURE GENETICS

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

(2011) Meral Gunay-Aygun et al.   NATURE GENETICS

The intestinal microbiota and chronic disorders of the gut

(2011) Andrew W. DuPont et al.   Nature Reviews Gastroenterology & Hepatology

Inflammatory Skin and Bowel Disease Linked toADAM17Deletion

(2011) Diana C. Blaydon et al.   NEW ENGLAND JOURNAL OF MEDICINE

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease

(2010) Shradha Agarwal et al.   INFLAMMATORY BOWEL DISEASES

Pediatric modification of the Montreal classification for inflammatory bowel disease

(2010) Arie Levine et al.   INFLAMMATORY BOWEL DISEASES

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

I-TASSER: a unified platform for automated protein structure and function prediction

(2010) Ambrish Roy et al.   Nature Protocols

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

The crystal structure of the C-terminus of adseverin reveals the actin-binding interface

(2009) S. Chumnarnsilpa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA